Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F19%3A10395741" target="_blank" >RIV/00064165:_____/19:10395741 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/19:10395741 RIV/00216208:11130/19:10395741 RIV/00064203:_____/19:10395741
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=cV60WgAlzg" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=cV60WgAlzg</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00415-019-09364-3" target="_blank" >10.1007/s00415-019-09364-3</a>
Alternative languages
Result language
angličtina
Original language name
Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease
Original language description
Background Tay-Sachs disease (TSD) is an inherited neurodegenerative disorder caused by a lysosomal beta-hexosaminidase A deficiency due to mutations in the HEXA gene. The late-onset form of disease (LOTS) is considered rare, and only a limited number of cases have been reported. The clinical course of LOTS differs substantially from classic infantile TSD. Methods Comprehensive data from 14 Czech patients with LOTS were collated, including results of enzyme assays and genetic analyses. Results 14 patients (9 females, 5 males) with LOTS were diagnosed between 2002 and 2018 in the Czech Republic (a calculated birth prevalence of 1 per 325,175 live births). The median age of first symptoms was 21 years (range 10-33 years), and the median diagnostic delay was 10.5 years (range 0-29 years). The main clinical symptoms at the time of manifestation were stammering or slurred speech, proximal weakness of the lower extremities due to anterior horn cell neuronopathy, signs of neo- and paleocerebellar dysfunction and/or psychiatric disorders. Cerebellar atrophy detected through brain MRI was a common finding. Residual enzyme activity was 1.8-4.1% of controls. All patients carried the typical LOTS-associated c.805G>A (p.Gly269Ser) mutation on at least one allele, while a novel point mutation, c.754C>T (p.Arg252Cys) was found in two siblings. Conclusion LOTS seems to be an underdiagnosed cause of progressive distal motor neuron disease, with variably expressed cerebellar impairment and psychiatric symptomatology in our group of adolescent and adult patients. The enzyme assay of beta-hexosaminidase A in serum/plasma is a rapid and reliable tool to verify clinical suspicions.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Neurology
ISSN
0340-5354
e-ISSN
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Volume of the periodical
266
Issue of the periodical within the volume
8
Country of publishing house
DE - GERMANY
Number of pages
7
Pages from-to
1953-1959
UT code for WoS article
000476506500015
EID of the result in the Scopus database
2-s2.0-85065702504